While glycosaminoglycan deposition in Mucopolysaccharidosis type II, a rare X-linked lysosomal storage disorder, unquestionably alters the brain, metabolic and microstructural MR markers have not been yet established. Thus, we utilized 3T diffusion MRI and fine-tuned semi-LASER MR spectroscopy as well as in-house developed 7T 3D-FID-MRS imaging to examine differences between seven MPSII and eight age-matched healthy males. Analyses revealed profound deficit in the supratentorial white matter consistent with de/dysmyelination on both diffusion and spectroscopy as well as decrease of neuronal population or hypometabolism measured as glutamate deficit in the posterior cingulate cortex, which is a critical hub of neurocognitive networks.
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